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Autosomal Recessive Spastic Paraplegia Type 28 Orphanet

Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities.

DDHD1
- Spastic Paraplegia 28, Autosomal Recessive OMIM
  
  A number sign (#) is used with this entry because autosomal recessive spastic paraplegia-28 (SPG28) is caused by homozygous or compound heterozygous mutation in the DDHD1 gene (614603) on chromosome 14q22.
Spinocerebellar Ataxia 28 GARD

Spinocerebellar ataxia 28 (SCA28)is a slowly progressive movement disorder that typically begins in early adulthood (but can affect children and older adults as well).

AFG3L2, TUBB6, SPG7, OMA1
- Spinocerebellar Ataxia Type 28 GeneReviews
  
  Summary Clinical characteristics. Spinocerebellar ataxia type 28 (SCA28) is characterized by young-adult onset, very slowly progressive gait and limb ataxia resulting in coordination and balance problems, dysarthria, ptosis, nystagmus, and ophthalmoparesis. ... Diagnosis Suggestive Findings Spinocerebellar ataxia type 28 (SCA28) should be suspected in individuals with the following: Onset generally in young adulthood (but with a wide range: ages 3-76 years) A slowly progressive gait disorder resulting from cerebellar impairment Cerebellar dysarthria Oculomotor abnormalities including ophthalmoparesis, nystagmus and ptosis Hyperreflexia or brisk deep tendon reflexes Brain MRI showing cerebellar atrophy predominantly of the superior vermis, with sparing of the brain stem A family history consistent with autosomal dominant inheritance Establishing the Diagnosis The diagnosis of SCA28 is established in a proband with typical clinical findings and identification of a heterozygous pathogenic variant in AFG3L2 by molecular genetic testing (see Table 1). ... Clinical Characteristics Clinical Description Spinocerebellar ataxia type 28 (SCA28) is characterized by young-adult onset, very slowly progressive gait and limb ataxia resulting in coordination and balance problems, dysarthria, ptosis, nystagmus, and ophthalmoparesis. ... Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs of an individual diagnosed with spinocerebellar ataxia type 28 (SCA28) the following evaluations are recommended if they have not already been completed: Neurologic examination (including scales to evaluate the severity of cerebellar ataxia and to allow subjective follow up) Cerebral MRI Note: MRI is part of the routine evaluation of persons with ataxia; however, in SCA28 no association between the extent of cerebellar atrophy and disease severity or progression has been proven.
- Spinocerebellar Ataxia 28 OMIM
  
  A number sign (#) is used with this entry because spinocerebellar ataxia-28 (SCA28) is caused by heterozygous mutation in the AFG3L2 gene (604581) on chromosome 18p11.
- Spinocerebellar Ataxia Type 28 Orphanet
  
  Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term).
Ciliary Dyskinesia, Primary, 28 OMIM

A number sign (#) is used with this entry because primary ciliary dyskinesia-28 (CILD28) is caused by homozygous or compound heterozygous mutation in the SPAG1 gene (603395) on chromosome 8q22. Description Primary ciliary dyskinesia-28 is an autosomal recessive disorder caused by defective ciliary movement.

SPAG1
Mental Retardation, Autosomal Recessive 28 OMIM

Clinical Features Abou Jamra et al. (2011) reported a consanguineous Syrian family (MR073) in which 3 sibs had nonsyndromic mental retardation. Symptoms included normal neonatal development, moderate intellectual disability, mild microcephaly, moderate motor delay, severe lingual delay, and white matter deficiencies on brain CT. Mapping By homozygosity mapping of a consanguineous Syrian family with mental retardation, Abou Jamra et al. (2011) found linkage to a 4.4-Mb region on chromosome 6q between SNPs rs6935718 and rs3886091 (lod score of 3.36). INHERITANCE - Autosomal recessive HEAD & NECK Head - Microcephaly, mild NEUROLOGIC Central Nervous System - Intellectual disability, moderate - Motor delay, moderate - Language delay, severe - Deficiencies of the white matter seen on CT scan MISCELLANEOUS - Based on a report of 1 consanguineous Syrian family (last curated November 2011) ▲ Close

CRBN
Joubert Syndrome 28 OMIM

A number sign (#) is used with this entry because of evidence that Joubert syndrome-28 (JBTS28) is caused by homozygous or compound heterozygous mutation in the MKS1 gene (609883) on chromosome 17q22.

INPP5E, CEP120, TCTN1, CPLANE1, AHI1, TRIM37, ARL13B, CEP41, TMEM67, ARMC9, TCTN2, CSPP1, ARL3, TMEM237, MKS1, B9D1, KIAA0556, PIBF1, KIAA0586, CEP104, HYLS1, ZIC1, CC2D2A, MICALL2, CEP290, SLC30A7
- Joubert Syndrome 31 OMIM
  
  A number sign (#) is used with this entry because of evidence that Joubert syndrome-31 (JBTS31) is caused by homozygous or compound heterozygous mutation in the CEP120 gene (613446) on chromosome 5q23. Biallelic mutations in the CEP120 gene have also been reported in patients with short-rib thoracic dysplasia-13 (SRTD13; 616300). For a general phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300). Clinical Features Roosing et al. (2016) reported 4 probands diagnosed with Joubert syndrome who had biallelic mutations in the CEP120 gene, including a 4.5-year-old girl from Italy (COR391), an 11-year-old boy from the United States (MTI-143), a 2-year-old boy from Palestine (MTI-991), and a 2-year-old girl from India (MTI-1516). All 4 patients presented with a neurologic phenotype consisting of hypotonia, developmental delay, and cognitive impairment, and all exhibited the molar tooth sign.
- Joubert Syndrome 15 OMIM
  
  A number sign (#) is used with this entry because Joubert syndrome-15 (JBTS15) is caused by homozygous mutation in the CEP41 gene (610523) on chromosome 7q32. Digenic inheritance has also been reported; see MOLECULAR GENETICS. Description Joubert syndrome-15 is an autosomal recessive developmental disorder characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation. Other features, such as polydactyly, breathing abnormalities, and oculomotor apraxia, are variable (summary by Lee et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. Clinical Features Lee et al. (2012) reported 8 patients from 3 consanguineous families with Joubert syndrome.
- Joubert Syndrome MedlinePlus
  
  Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. The hallmark feature of Joubert syndrome is a combination of brain abnormalities that together are known as the molar tooth sign , which can be seen on brain imaging studies such as magnetic resonance imaging (MRI). This sign results from the abnormal development of structures near the back of the brain, including the cerebellar vermis and the brainstem. The molar tooth sign got its name because the characteristic brain abnormalities resemble the cross-section of a molar tooth when seen on an MRI. Most infants with Joubert syndrome have low muscle tone (hypotonia) in infancy, which contributes to difficulty coordinating movements (ataxia) in early childhood.
- Joubert Syndrome 35 OMIM
  
  A number sign (#) is used with this entry because of evidence that Joubert syndrome-35 (JBTS35) is caused by homozygous mutation in the ARL3 gene (604695) on chromosome 10q24. For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300). Clinical Features Alkanderi et al. (2018) reported 1 patient from a consanguineous Saudi Arabian family and 3 sisters from a consanguineous Pakistani family with Joubert syndrome. The patients ranged in age from 5 to 21 years. Common features included developmental delay, hypotonia, ataxia, and retinal rod-cone dystrophy with night blindness and progressive visual impairment. One patient had oculomotor apraxia. Brain imaging showed the molar tooth sign with cerebellar vermis hypoplasia and elongation of the superior cerebellar peduncles in all patients.
- Joubert Syndrome 20 OMIM
  
  A number sign (#) is used with this entry because of evidence that Joubert syndrome-20 (JBTS20) is caused by compound heterozygous mutation in the TMEM231 gene (614949) on chromosome 16q23. For a general phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. Clinical Features Srour et al. (2012) reported 3 patients from 2 unrelated French Canadian families with Joubert syndrome. The patients were 14, 9, and 4 years old, respectively. All had developmental delay and were nonverbal and nonambulatory. Other features included oculomotor apraxia, breathing abnormalities, and the molar tooth sign on brain MRI.
- Joubert Syndrome Orphanet
  
  A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. Epidemiology Prevalence is estimated at approximately 1/100,000. Clinical description Disease onset is antenatal, although clinical presentation is typically in the neonatal period with irregular breathing pattern (episodic tachypnea and/or apnea), and nystagmus. During infancy, hypotonia may appear. Cerebellar ataxia (staggering gait and imbalance) may develop later. Delayed acquisition of motor milestones is common. Cognitive abilities are variable, ranging from severe intellectual deficit to normal intelligence. Neuro-ophthalmologic examination may show oculomotor apraxia. In some cases, seizures occur.
- Joubert Syndrome 17 OMIM
  
  A number sign (#) is used with this entry because Joubert syndrome-17 (JBTS17) is caused by compound heterozygous mutation in the C5ORF42 gene (CPLANE1; 614571) on chromosome 5p13. Mutation in the C5ORF42 gene can also cause orofaciodigital syndrome VI (OFD6; 277170), a disorder with overlapping features. For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. Clinical Features Joubert et al. (1969) described 4 French Canadian sibs, born of distantly related parents, with a severe neurologic disorder characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation. Partial or complete agenesis of the cerebellar vermis was demonstrated by autopsy or pneumoencephalogram.
- Joubert Syndrome 27 OMIM
  
  A number sign (#) is used with this entry because of evidence that Joubert syndrome-27 (JBTS27) is caused by homozygous or compound heterozygous mutation in the B9D1 gene (614144) on chromosome 17p11. For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. Clinical Features Romani et al. (2014) reported 2 unrelated children, a 9-year-old boy (COR363) and a 7-year-old girl (COR346), with a relatively mild form of Joubert syndrome. Both had developmental delay, oculomotor abnormalities such as nystagmus or oculomotor apraxia, unspecified dysmorphic features, hypotonia and/or ataxia, and the molar tooth sign on brain imaging. In their table 1, only patient COR363 was noted to have intellectual disability; however, the text suggested that both patients had intellectual disability.
- Joubert Syndrome 8 OMIM
  
  A number sign (#) is used with this entry because of evidence that Joubert syndrome-8 (JBTS8) is caused by homozygous or compound heterozygous mutation in the ARL13B gene (608922) on chromosome 3q11. For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. Clinical Features Cantagrel et al. (2008) studied 2 families with Joubert syndrome in which novel mutations in the ARL13B gene were subsequently found. The phenotype consisted predominantly of classical Joubert syndrome, with all patients displaying the molar tooth sign. In the Pakistani pedigree in which the disorder was mapped, 2 of the 3 affected individuals had a small occipital encephalocele.
- Joubert Syndrome 6 OMIM
  
  A number sign (#) is used with this entry because of evidence that Joubert syndrome-6 (JBTS6) is caused by homozygous or compound heterozygous mutation in the TMEM67 (609884) on chromosome 8q22. Description Joubert syndrome is an autosomal recessive disorder presenting with psychomotor delay, hypotonia, ataxia, oculomotor apraxia, and neonatal breathing abnormalities. Neuroradiologically, Joubert syndrome is characterized by peculiar malformation of the midbrain-hindbrain junction known as the 'molar tooth sign' (MTS) consisting of cerebellar vermis hypoplasia or aplasia, thick and maloriented superior cerebellar peduncles, and abnormally deep interpeduncular fossa (Romano et al., 2006). For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. Clinical Features Baala et al. (2007) identified a genetically distinct form of Joubert syndrome designated JBTS6.
- Joubert Syndrome 30 OMIM
  
  Mutations in the first 2 families were found by whole-exome sequencing of 53 patients from 51 families with a clinical diagnosis of Joubert syndrome in whom mutations in 28 JBTS-associated genes had been excluded.
- Joubert Syndrome 1 OMIM
  
  A number sign (#) is used with this entry because of evidence that Joubert syndrome-1 (JBTS1) is caused by homozygous mutation in the INPP5E gene (613037) on chromosome 9q34. Description Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (Saraiva and Baraitser, 1992; Valente et al., 2005). Genetic Heterogeneity of Joubert Syndrome See also JBTS2 (608091), caused by mutation in the TMEM216 gene (613277) on chromosome 11q13; JBTS3 (608629), caused by mutation in the AHI1 gene (608894) on chromosome 6q23; JBTS4 (609583), caused by mutation in the NPHP1 gene (607100) on chromosome 2q13; JBTS5 (610188), caused by mutation in the CEP290 gene, also called NPHP6 (610142), on chromosome 12q21.32; JBTS6 (610688), caused by mutation in the TMEM67 gene (609884) on chromosome 8q21; JBTS7 (611560), caused by mutation in the RPGRIP1L gene (610937) on chromosome 16q12.2; JBTS8 (612291), caused by mutation in the ARL13B (608922) on chromosome 3q11.2; JBTS9 (612285), caused by mutation in the CC2D2A gene (612013) on chromosome 4p15.3; JBTS10 (300804), caused by mutation in the CXORF5 gene (300170) on chromosome Xp22.3; JBTS11 (see 613820), caused by mutation in the TTC21B gene (612014) on chromosome 2q24; JBTS12 (see 200990), caused by mutation in the KIF7 gene (611254) on chromosome 15q26; JBTS13 (614173), caused by mutation in the TCTN1 gene (609863) on chromosome 12q24; JBTS14 (614424), caused by mutation in the TMEM237 gene (614423) on chromosome 2q33; JBTS15 (614464), caused by mutation in the CEP41 gene (610523) on chromosome 7q32; JBTS16 (614465), caused by mutation in the TMEM138 gene (614459) on chromosome 11q; JBTS17 (614615), caused by mutation in the C5ORF42 gene (614571) on chromosome 5p13; JBTS18 (614815), caused by mutation in the TCTN3 gene (613847) on chromosome 10q24; JBTS19 (see 614844), caused by mutation in the ZNF423 gene (604577) on chromosome 16q12; JBTS20 (614970), caused by mutation in the TMEM231 gene (614949) on chromosome 16q23; JBTS21 (615636), caused by mutation in the CSPP1 gene (611654) on chromosome 8q13; JBTS22 (615665), caused by mutation in the PDE6D gene (602676) on chromosome 2q37; JBTS23 (616490), caused by mutation in the KIAA0586 gene (610178) on chromosome 14q23; JBTS24 (616654), caused by mutation in the TCTN2 gene (613846) on chromosome 12q24; JBTS25 (616781), caused by mutation in the CEP104 gene (616690) on chromosome 1p36; JBTS26 (616784), caused by mutation in the KIAA0556 gene (616650) on chromosome 16p12; JBTS27 (617120), caused by mutation in the B9D1 gene (614144) on chromosome 17p11; JBTS28 (617121), caused by mutation in the MKS1 gene (609883) on chromosome 17q23; JBTS29 (see 617562), caused by mutation in the TMEM107 gene (616183) on chromosome 17p13; JBTS30 (617622), caused by mutation in the ARMC9 gene (617612) on chromosome 2q37; JBTS31 (617761), caused by mutation in the CEP120 gene (613446) on chromosome 5q23; JBTS32 (617757), caused by mutation in the SUFU gene (607035) on chromosome 10q24; JBTS33 (617767), caused by mutation in the PIBF1 gene (607532) on chromosome 13q21; JBTS34 (see 614175), caused by mutation in the B9D2 gene (611951) on chromosome 19q13; and JBTS35 (618161), caused by mutation in the ARL3 gene (604695) on chromosome 10q24. Clinical Features De Haene (1955) collected from the literature 4 cases of total and 7 cases of partial agenesis of the vermis of the cerebellum, and added the only familial example: 3 brothers (1 autopsy) died at ages 4 to 8 years, the illness being characterized by tremor and hypotonia.
Mitochondrial Complex I Deficiency, Nuclear Type 28 OMIM

A number sign (#) is used with this entry because of evidence that mitochondrial complex I deficiency nuclear type 28 (MC1DN28) is caused by homozygous mutation in the NDUFA13 gene (609435) on chromosome 19p13.

NDUFA13
Bare Lymphocyte Syndrome Type Ii Wikipedia

Genetics Home Reference . Retrieved 2017-07-28 . ^ Reference, Genetics Home. "RFX5 gene" . Genetics Home Reference . Retrieved 2017-07-28 . ^ Reference, Genetics Home. "RFXANK gene" . Genetics Home Reference . Retrieved 2017-07-28 . ^ Reference, Genetics Home. "RFXAP gene" . Genetics Home Reference . Retrieved 2017-07-28 . ^ Reith, Walter; Picard, Capucine (2016). ... "Orphanet: Immunodeficiency by defective expression of HLA class 2" . www.orpha.net . Retrieved 2017-07-28 . ^ Bratzler, Dale W.; Dellinger, E.

AK2, CD3D, CD3E, JAK3, ZAP70, TFRC, CIITA, HLA-C, B2M, F10, RFXANK, RFXAP, TAP1, H3C9P, ANKRA2, NT5C3A, MAPK1, RFX5, RFX1, ANXA2, MNAT1, IL2, HLA-A, H3P29
- Bare Lymphocyte Syndrome Wikipedia
  
  Bare lymphocyte syndrome Specialty Hematology Bare lymphocyte syndrome is a condition caused by mutations in certain genes of the major histocompatibility complex or involved with the processing and presentation of MHC molecules. It is a form of severe combined immunodeficiency . [1] Contents 1 Presentation 2 Symptoms 3 Genetics 3.1 BLS II 3.2 BLS I 4 Diagnosis 4.1 Classification 5 Treatment 6 References 7 External links Presentation [ edit ] The bare lymphocyte syndrome, type II (BLS II) is a rare recessive genetic condition in which a group of genes called major histocompatibility complex class II (MHC class II) are not expressed. The result is that the immune system is severely compromised and cannot effectively fight infection . Clinically, this is similar to severe combined immunodeficiency (SCID), in which lymphocyte precursor cells are improperly formed. As a notable contrast, however, bare lymphocyte syndrome does not result in decreased B- and T-cell counts, as the development of these cells is not impaired.
Spermatogenic Failure 28 OMIM

A number sign (#) is used with this entry because of evidence that spermatogenic failure-28 (SPGF28) is caused by homozygous or compound heterozygous mutation in the FANCM gene (609644) on chromosome 14q21. Description Spermatogenic failure-28 is characterized by nonobstructive azoospermia, with a Sertoli cell-only phenotype observed in testicular tissue (Kasak et al., 2018).

FANCM
- Fanconi Anemia MedlinePlus
  
  Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers. The major function of bone marrow is to produce new blood cells. These include red blood cells, which carry oxygen to the body's tissues; white blood cells , which fight infections; and platelets , which are necessary for normal blood clotting. Approximately 90 percent of people with Fanconi anemia have impaired bone marrow function that leads to a decrease in the production of all blood cells (aplastic anemia ). Affected individuals experience extreme tiredness (fatigue) due to low numbers of red blood cells (anemia ), frequent infections due to low numbers of white blood cells (neutropenia), and clotting problems due to low numbers of platelets (thrombocytopenia). People with Fanconi anemia may also develop myelodysplastic syndrome, a condition in which immature blood cells fail to develop normally.
Odynophagia Wikipedia

Houghton Mifflin Company . Retrieved 28 February 2017 . ^ "Medical Definition of Odynophagia" . MedicineNet . 13 May 2016 . Retrieved 28 February 2017 . ^ a b Schiff, Bradley A. ... Merck Sharp & Dohme Corp . Retrieved 28 February 2017 . ^ Allan B. Wolfson, ed. (2005). ... Mayo Foundation for Medical Education and Research (MFMER) . Retrieved 28 February 2017 . ^ "Search results for: Odynophagia" . ... Merck Sharp & Dohme Corp . Retrieved 28 February 2017 . External links [ edit ] Quotations related to Odynophagia at Wikiquote Classification D ICD - 10 : R13 ICD - 9-CM : 787.20 DiseasesDB : 17942 v t e Symptoms and signs relating to the human digestive system or abdomen Gastrointestinal tract Nausea Vomiting Heartburn Aerophagia Pagophagia Dysphagia oropharyngeal esophageal Odynophagia Bad breath Xerostomia Hypersalivation Burping Wet burp Goodsall's rule Chilaiditi syndrome Dance's sign Aaron's sign Arapov's sign Markle sign McBurney's point Sherren's triangle Radiologic signs : Hampton's line Klemm's sign Accessory liver : Councilman body Mallory body biliary: Boas' sign Courvoisier's law Charcot's cholangitis triad / Reynolds' pentad cholecystitis ( Murphy's sign Lépine's sign Mirizzi's syndrome ) Nardi test Defecation Flatulence Fecal incontinence Encopresis Fecal occult blood Rectal tenesmus Constipation Obstructed defecation Diarrhea Rectal discharge Psoas sign Obturator sign Rovsing's sign Hamburger sign Heel tap sign Aure-Rozanova's sign Dunphy sign Alder's sign Lockwood's sign Rosenstein's sign Abdomen Pain Abdominal pain Acute abdomen Colic Baby colic Abdominal guarding Blumberg sign Distension Abdominal distension Bloating Ascites Tympanites Shifting dullness Ascites Fluid wave test Masses Abdominal mass Hepatosplenomegaly Hepatomegaly Splenomegaly Other Jaundice Mallet-Guy sign Puddle sign Ballance's sign Aortic insufficiency Castell's sign Kehr's sign Cullen's sign Grey Turner's sign Hernia Howship–Romberg sign Hannington-Kiff sign Other Cupola sign Fothergill's sign Carnett's sign Sister Mary Joseph nodule This medical symptom article is a stub .

CRP, NT5E
Polioencephalitis Wikipedia

Si.edu . 1 February 2005 . Retrieved 28 July 2015 . ^ Bruno, R.; Frick, N.; Creange, S.; Zimmerman, J.; Lewis, T. (1996). ... Archived from the original on 3 August 2015 . Retrieved 28 July 2015 . ^ "Polio: Lab: Diagnostic Methods" . Center for Disease Control . Retrieved 28 July 2015 . ^ "Polio" . CDC Global Health . Center for Disease Control . Retrieved 28 July 2015 . ^ Charles Patrick Davis, MD, PhD. "Polio Symptoms, Causes, Treatment — How do physicians diagnose polio?" . MedicineNet . Retrieved 28 July 2015 . CS1 maint: multiple names: authors list ( link ) ^ "Polio" .
Abortion In Vietnam Wikipedia

A study conducted by the Hanoi Central Obstetrics Hospital found that 40% of all pregnancies in Vietnam are terminated each year. [6] References [ edit ] ^ a b c d "More to Demand: Abortion in Vietnam" . www.isiswomen.org . Retrieved 2018-09-28 . ^ a b c d e "Abortion Policy in Vietnam" . United Nations (Word Document) . Retrieved 28 September 2018 . ^ "Abortion in Asia" . Guttmacher Institute . 2016-05-10 . Retrieved 2018-09-28 . ^ Worrell, Marc. "Abortion law Vietnam" . Women on Waves . Retrieved 2018-09-28 . ^ Ministers], [Council of (1989). ... "Vietnam tackles high abortion rates" . www.aljazeera.com . Retrieved 2018-09-28 .
Sudden Cardiac Death Of Athletes Wikipedia

Mohamed Abdelwahab , 22 (2006), soccer Gaines Adams , 26 (2010), Amer. football Jaouad Akaddar , 28 (2012), soccer Davide Astori , 31 (2018), soccer Víctor Hugo Ávalos , 37 (2009), soccer Heath Benedict , 24 (2008), Amer. football Hédi Berkhissa , 24 (1997), soccer Viktor Blinov , 22 (1968), ice hockey Gilbert Bulawan , 29 (2016), basketball J. V. Cain , 28 (1979), Amer. football Sékou Camara , 27 (2013), soccer Alexei Cherepanov , 19 (2008), ice hockey Mitchell Cole , 27 (2012), soccer Jason Collier , 28 (2005), basketball Hugo Cunha , 28 (2005), soccer Renato Curi , 24 (1977), soccer Alexander Dale Oen , 26 (2012), swimming Shane del Rosario , 30 (2013), MMA Ben Idrissa Dermé , 34 (2016), soccer Lyle Downs , 24 (1921), Austral. football Patrick Ekeng , 26 (2016), soccer Bobsam Elejiko , 30 (2011), soccer Derrick Faison , 36 (2004), Amer. football Sebastian Faisst , 20 (2009), handball Miklós Fehér , 24 (2004), soccer Neil Fingleton , 36 (2017), basketball Marc-Vivien Foé , 28 (2003), soccer Matt Gadsby , 27 (2006), soccer Hank Gathers , 23 (1990), basketball Cristian Gómez , 27 (2015), soccer Michael Goolaerts , 23 (2018), cycling Larry Gordon , 28 (1983), Amer. football Herb Gorman , 28 (1953), baseball Rasmus Green , 26 (2006), soccer Sergei Grinkov , 28 (1995), figure skating Eddie Guerrero , 38 (2005), wrestling Frank Hayes , 35 (1923), horse racing Thomas Herrion , 23 (2005), Amer. football Cătălin Hîldan , 24 (2000), soccer Dixie Howell , 40 (1960), baseball Chuck Hughes , 28 (1971), Amer. football Flo Hyman , 31 (1986), volleyball Endurance Idahor , 25 (2010), soccer Robbie James , 40 (1998), soccer Daniel Jarque , 26 (2009), soccer Cristiano Júnior , 25 (2004), soccer Joe Kennedy , 28 (2007), baseball Darryl Kile , 33 (2002), baseball John Kirkby , 23 (1953), soccer Michael Klein , 33 (1993), soccer György Kolonics , 36 (2008), canoeing Wayne Larkin , 29 (1968), ice hockey Rauli Levonen , 28 (1981), ice hockey Reggie Lewis , 27 (1993), basketball José Lima , 37 (2010), baseball David Longhurst , 25 (1990), soccer Nikola Mantov , 23 (1973), soccer Pete Maravich , 40 (1988), basketball Alex Marques , 20 (2013), soccer Jesse Marunde , 27 (2007), weightlifting Scott Mason , 28 (2005), cricket Stan Mauldin , 27 (1948), Amer. football Cormac McAnallen , 24 (2004), Gaelic football Conrad McRae , 29 (2000), basketball Fab Melo , 26 (2017), basketball Nilton Pereira Mendes , 30 (2006), soccer Igor Misko , 23 (2010), ice hockey Stéphane Morin , 29 (1998), ice hockey Piermario Morosini , 25 (2012), soccer Carl Morton , 39 (1983), baseball Damien Nash , 24 (2007), Amer. football Frederiek Nolf , 21 (2009), cycling Chaswe Nsofwa , 28 (2007), soccer Gábor Ocskay , 33 (2009), ice hockey Phil O'Donnell , 35 (2007), soccer Samuel Okwaraji , 25 (1989), soccer David Oniya , 30 (2015), soccer Alen Pamić , 23 (2013), soccer Pavão , 26 (1973), soccer Bruno Pezzey , 39 (1994), soccer Pheidippides , c. 40 (490 BC), marathon Petar Radaković , 29 (1966), soccer Mickey Renaud , 19 (2008), ice hockey Bernardo Ribeiro , 26 (2016), soccer Darcy Robinson , 26 (2007), ice hockey Brad Rone , 34 (2003), boxing Omar Sahnoun , 24 (1980), soccer Serginho , 30 (2004), soccer Ryan Shay , 28 (2007), marathon Dave Sparks , 26 (1954), Amer. football Cheick Tioté , 30 (2017), soccer Robert Traylor , 34 (2011), basketball Zeke Upshaw , 26 (2018), basketball Luciano Vendemini , 24 (1977), basketball Ginty Vrede , 22 (2008), kickboxing Frank Warfield , 35 (1932), baseball Chandler Williams , 27 (2013), Amer. football David "Soldier" Wilson , 23 (1906), soccer Sergejs Žoltoks , 31 (2004), ice hockey See also [ edit ] Cardiac Risk in the Young (UK charity) Lists of sportspeople who died during their careers References [ edit ] ^ van der Werf C, van Langen IM, Wilde AA (February 2010). ... "Epidemiology of sudden cardiac death: clinical and research implications" . Prog Cardiovasc Dis . 51 (3): 213–28. doi : 10.1016/j.pcad.2008.06.003 .
Abortion In Nepal Wikipedia

Women on Waves . Retrieved 2018-09-28 . ^ Bhandari, T. R.; Dangal, G. (2015-08-17). ... PMID 28825899 . ^ "Vacuum Aspiration for Abortion | CS Mott Children's Hospital | Michigan Medicine" . www.mottchildren.org . Retrieved 2018-09-28 . ^ "10 Things You Should Know about Abortion Service in Nepal" . The ASAP Blog . 2015-08-24 . Retrieved 2018-09-28 . ^ Wu, Wan-Ju; Maru, Sheela; Regmi, Kiran; Basnett, Indira (June 2017). ... Women on Waves . Retrieved 2018-09-28 .
Deafness, Autosomal Recessive 28 OMIM

A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-28 (DFNB28) is caused by homozygous mutation in the TRIOBP gene (609761) on chromosome 22q13.

TRIOBP, TRIO
Canine Cognitive Dysfunction Wikipedia

Pets.webmd.com . Retrieved 2014-01-28 . ^ a b Andrea Menashe (2013-10-30). ... OregonLive.com . Retrieved 2014-01-28 . ^ "Dementia (Geriatric) in Dogs" . petMD . Retrieved 2014-01-28 . ^ "Cognitive Dysfunction Syndrome in Dogs" (PDF) . ... Archived from the original (PDF) on 2013-09-19. ^ "CDSInDogs" . CDSInDogs . Retrieved 2014-01-28 . ^ Landsberg, Gary (2005). "Therapeutic agents for the treatment of cognitive dysfunction syndrome in senior dogs". ... Drsfostersmith.com. 2013-08-26 . Retrieved 2014-01-28 .
Combined Oxidative Phosphorylation Deficiency 28 OMIM

A number sign (#) is used with this entry because of evidence that combined oxidative phosphorylation deficiency-28 (COXPD28) is caused by homozygous or compound heterozygous mutation in the SLC25A26 gene (611037) on chromosome 3p14. Description Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction.

SLC25A26
- Neonatal Severe Cardiopulmonary Failure Due To Mitochondrial Methylation Defect Orphanet
  
  A rare mitochondrial disease characterized by a variable clinical phenotype ranging from fetal hydrops and postnatal hypotonia, bradycardia, and respiratory failure, resulting in death in the neonatal period, to infantile onset of episodes of acute cardiopulmonary failure associated with severe lactic acidosis, and slowly progressive muscle weakness. Muscle biopsy shows reduced activity of mitochondrial complexes I, III, and IV.
Muscular Atrophy, Malignant Neurogenic OMIM

Zatz et al. (1971) described a Brazilian kindred of Italian origin in which 7 members had neurogenic muscular atrophy with an unusually malignant and rapid course. Onset varied from ages 28 to 62 years and death from respiratory paralysis occurred within 1 year. ... Pulmonary - Respiratory paralysis Muscle - Neurogenic muscular atrophy Misc - Malignant and rapid course - Onset age 28 to 62 years Inheritance - Autosomal dominant ▲ Close
Acroosteolysis Wikipedia

Academia Española de Dermatología y Veneralogía. Archived from the original on 28 April 2015 . Retrieved 28 June 2014 . ^ Baran, Robert; de Berker, David A. ... Wiley. ISBN 978-0470657355 . Retrieved 28 June 2014 . ^ http://radiopaedia.org/articles/pinch-fo ^ Freedberg, et al. (2003).

NOTCH2, ZMPSTE24, LMNA, HPGD, KIF1A, CTSC, COL3A1, FLNA, PDGFRB, SCN9A, ATL3, RETREG1, IFIH1, WNK1, PTHLH, TNF
- Hajdu–cheney Syndrome Wikipedia
  
  Hajdu–Cheney syndrome Other names Acrodentoosteodysplasia, Arthrodentoosteodysplasia Hajdu-Cheney Specialty Rheumatology , medical genetics Hajdu–Cheney syndrome , also called acroosteolysis with osteoporosis and changes in skull and mandible , arthrodentoosteodysplasia and Cheney syndrome , [1] is an extremely rare autosomal dominant congenital disorder [2] [3] of the connective tissue characterized by severe and excessive bone resorption leading to osteoporosis and a wide range of other possible symptoms. Mutations in the NOTCH2 gene, identified in 2011, cause HCS. HCS is so rare that only about 50 cases have been reported worldwide since the discovery of the syndrome in 1948 [4] Contents 1 Signs and symptoms 2 Genetics 3 Pathogenesis 4 Diagnosis 4.1 Types 5 Treatment 6 Eponym 7 References 8 Further reading 9 External links Signs and symptoms [ edit ] Hajdu–Cheney syndrome causes many issues with an individual’s connective tissues. Some general characteristics of an individual with Hajdu–Cheney syndrome include bone flexibility and deformities, short stature, delayed acquisition of speech and motor skills, dolichocephalic skull, Wormian bone , small maxilla, hypoplastic frontal sinuses, basilar impression, joint laxity, bulbous finger tips and severe osteoporosis. Wormian bone occurs when extra bones appear between cranial sutures. Fetuses with Hajdu–Cheney syndrome often will not be seen to unclench their hands on obstetrical ultrasound. They may also have low-set ears and their eyes may be farther apart than on a usual child, called hypertelorism .
Opitz G/bbb Syndrome Wikipedia

Opitz G/BBB syndrome. Meroni, G. (2011, July 28). X-Linked Opitz G/BBB Syndrome. GeneReviews . ... Seattle, Washington, USA: University of Washington, Seattle. ^ Meroni, G. (2011, July 28). X-Linked Opitz G/BBB Syndrome. GeneReviews . ... Cleveland, Ohio, USA: Johns Hopkins University. ^ Meroni, G. (2011, July 28). X-Linked Opitz G/BBB Syndrome. GeneReviews . ... Cleveland, Ohio, USA: Johns Hopkins University. ^ Meroni, G. (2011, July 28). X-Linked Opitz G/BBB Syndrome. GeneReviews . ... (Health Grades, Inc.) Retrieved July 28, 2015, from Right Diagnosis from healthgrades: http://www.rightdiagnosis.com/o/opitz_g_bbb_syndrome/complic.htm ^ Meroni, G. (2011, July 28).

SPECC1L, MID1, SPECC1L-ADORA2A, MID2, RMDN1, RMDN3, SYBU, RMDN2, PTPA, PRKN, SGSM3, MUL1, CBLL2
- Opitz G/bbb Syndrome Orphanet
  
  A rare X-linked congenital midline malformation syndrome characterized by hypertelorism, laryngo-tracheo-esophageal defects and hypospadias. Epidemiology The prevalence of X-linked Optiz GBBB syndrome (GBBB) ranges from 1/50,000 to 1/100,000. Males are more severely affected. More than 150 patients are reported with MID1 mutation. The clinical diagnostic is unreliable in older literature due to phenotypic confusion. Clinical description GBBB syndrome usually presents with characteristic facial dysmorphism: prominent forehead, hypertelorism (>95% of cases) and telecanthus, cleft lip/palate (50%), broad nasal bridge, broad nasal tip and anteverted nares.
Presenile Dementia, Kraepelin Type OMIM

In 4 of the 6 persons, onset was at a very early age: 28, 31, 33 and 34 years. Misc - Onset as early as age 28 Neuro - Nonspecific presenile dementia - Catatonia Inheritance - Autosomal dominant ▲ Close